MBTPS2

MBTPS2 (pronounced em-bee-tee-pee-ess-two) is a gene that provides instructions for making an enzyme called membrane-bound transcription factor peptidase, site 2. This enzyme is found in various tissues throughout the body, including the skin, hair follicles, and nails.

Etymology

The term MBTPS2 is an acronym derived from Membrane-Bound Transcription Factor Peptidase, Site 2.

Function

The enzyme produced by the MBTPS2 gene is part of a group of proteins known as proteases, which modify proteins by cutting them into smaller pieces. This particular enzyme is involved in the process of protein biosynthesis and cell signaling, playing a crucial role in the normal development and function of the skin and other tissues.

Related Terms

• Gene
• Enzyme
• Protease
• Protein biosynthesis
• Cell signaling

Health Relevance

Mutations in the MBTPS2 gene have been associated with a variety of medical conditions, including ichthyosis, a group of skin disorders characterized by dry, scaly skin. Other conditions linked to mutations in this gene include IFAP syndrome, a rare genetic disorder characterized by a triad of symptoms: ichthyosis follicularis, atrichia (absence of hair), and photophobia (light sensitivity).

See Also

• Genetic mutation
• Ichthyosis
• IFAP syndrome

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